174 related articles for article (PubMed ID: 30221345)
1. Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.
Kvarnung M; Taylan F; Nilsson D; Anderlid BM; Malmgren H; Lagerstedt-Robinson K; Holmberg E; Burstedt M; Nordenskjöld M; Nordgren A; Lundberg ES
Clin Genet; 2018 Dec; 94(6):528-537. PubMed ID: 30221345
[TBL] [Abstract][Full Text] [Related]
2. A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype.
Hancarova M; Babikyan D; Bendova S; Midyan S; Prchalova D; Shahsuvaryan G; Stranecky V; Sarkisian T; Sedlacek Z
Mol Genet Genomic Med; 2019 Sep; 7(9):e865. PubMed ID: 31334606
[TBL] [Abstract][Full Text] [Related]
3. Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
Alves RM; Uva P; Veiga MF; Oppo M; Zschaber FCR; Porcu G; Porto HP; Persico I; Onano S; Cuccuru G; Atzeni R; Vieira LCN; Pires MVA; Cucca F; Toralles MBP; Angius A; Crisponi L
BMC Med Genet; 2019 Jan; 20(1):16. PubMed ID: 30642272
[TBL] [Abstract][Full Text] [Related]
4. Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family.
Khan MI; Latif M; Saif M; Ahmad H; Khan AU; Naseer MI; Hussain HMJ; Jelani M
J Gene Med; 2021 Jan; 23(1):e3279. PubMed ID: 32989887
[TBL] [Abstract][Full Text] [Related]
5. Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features.
Smaili W; Elalaoui SC; Zrhidri A; Raymond L; Egéa G; Taoudi M; Mouatassim SEL; Sefiani A; Lyahyai J
Eur J Med Genet; 2020 Jul; 63(7):103951. PubMed ID: 32439618
[TBL] [Abstract][Full Text] [Related]
6. Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.
Balobaid A; Ben-Omran T; Ramzan K; Altassan R; Almureikhi M; Musa S; Al-Hashmi N; Al-Owain M; Al-Zaidan H; Al-Hassnan Z; Imtiaz F; Al-Sayed M
Am J Med Genet A; 2018 Dec; 176(12):2850-2857. PubMed ID: 30345601
[TBL] [Abstract][Full Text] [Related]
7. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
Moortgat S; Désir J; Benoit V; Boulanger S; Pendeville H; Nassogne MC; Lederer D; Maystadt I
Am J Med Genet A; 2016 Nov; 170(11):2927-2933. PubMed ID: 27333055
[TBL] [Abstract][Full Text] [Related]
8. Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
Riazuddin S; Hussain M; Razzaq A; Iqbal Z; Shahzad M; Polla DL; Song Y; van Beusekom E; Khan AA; Tomas-Roca L; Rashid M; Zahoor MY; Wissink-Lindhout WM; Basra MAR; Ansar M; Agha Z; van Heeswijk K; Rasheed F; Van de Vorst M; Veltman JA; Gilissen C; Akram J; Kleefstra T; Assir MZ; ; Grozeva D; Carss K; Raymond FL; O'Connor TD; Riazuddin SA; Khan SN; Ahmed ZM; de Brouwer APM; van Bokhoven H; Riazuddin S
Mol Psychiatry; 2017 Nov; 22(11):1604-1614. PubMed ID: 27457812
[TBL] [Abstract][Full Text] [Related]
9. Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
Evers C; Kaufmann L; Seitz A; Paramasivam N; Granzow M; Karch S; Fischer C; Hinderhofer K; Gdynia G; Elsässer M; Pinkert S; Schlesner M; Bartram CR; Moog U
Am J Med Genet A; 2016 Jun; 170(6):1502-9. PubMed ID: 27016154
[TBL] [Abstract][Full Text] [Related]
10. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.
Kvarnung M; Nilsson D; Lindstrand A; Korenke GC; Chiang SC; Blennow E; Bergmann M; Stödberg T; Mäkitie O; Anderlid BM; Bryceson YT; Nordenskjöld M; Nordgren A
J Med Genet; 2013 Aug; 50(8):521-8. PubMed ID: 23636107
[TBL] [Abstract][Full Text] [Related]
11. OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype.
Abdel-Salam GMH; Abdel-Hamid MS; Sayed ISM; Zechner U; Bolz HJ
J Hum Genet; 2022 Jan; 67(1):55-64. PubMed ID: 34354232
[TBL] [Abstract][Full Text] [Related]
12. ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Yates TM; Drucker M; Barnicoat A; Low K; Gerkes EH; Fry AE; Parker MJ; O'Driscoll M; Charles P; Cox H; Marey I; Keren B; Rinne T; McEntagart M; Ramachandran V; Drury S; Vansenne F; Sival DA; Herkert JC; Callewaert B; Tan WH; Balasubramanian M
Hum Mutat; 2020 May; 41(5):1042-1050. PubMed ID: 32097528
[TBL] [Abstract][Full Text] [Related]
13. Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
Ansar M; Paracha SA; Serretti A; Sarwar MT; Khan J; Ranza E; Falconnet E; Iwaszkiewicz J; Shah SF; Qaisar AA; Santoni FA; Zoete V; Megarbane A; Ahmed J; Colombo R; Makrythanasis P; Antonarakis SE
Hum Mol Genet; 2019 Mar; 28(6):972-979. PubMed ID: 30481285
[TBL] [Abstract][Full Text] [Related]
14. Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability.
Rasool IG; Zahoor MY; Iqbal M; Anjum AA; Ashraf F; Abbas HQ; Baig HMA; Mahmood T; Shehzad W
Genes Genomics; 2021 May; 43(5):503-512. PubMed ID: 33710595
[TBL] [Abstract][Full Text] [Related]
15. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
Giorgio E; Ciolfi A; Biamino E; Caputo V; Di Gregorio E; Belligni EF; Calcia A; Gaidolfi E; Bruselles A; Mancini C; Cavalieri S; Molinatto C; Cirillo Silengo M; Ferrero GB; Tartaglia M; Brusco A
Am J Med Genet A; 2016 Jul; 170(7):1772-9. PubMed ID: 27108886
[TBL] [Abstract][Full Text] [Related]
16. Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability.
Thuresson AC; Soussi Zander C; Zhao JJ; Halvardson J; Maqbool K; Månsson E; Stenninger E; Holmlund U; Öhrner Y; Feuk L
Clin Genet; 2019 Mar; 95(3):436-439. PubMed ID: 30525197
[TBL] [Abstract][Full Text] [Related]
17. Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies.
Casey J; Jenkinson A; Magee A; Ennis S; Monavari A; Green A; Lynch SA; Crushell E; Hughes J
Clin Dysmorphol; 2016 Oct; 25(4):146-51. PubMed ID: 27295358
[TBL] [Abstract][Full Text] [Related]
18. Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability.
Muthusamy B; Selvan LDN; Nguyen TT; Manoj J; Stawiski EW; Jaiswal BS; Wang W; Raja R; Ramprasad VL; Gupta R; Murugan S; Kadandale JS; Prasad TSK; Reddy K; Peterson A; Pandey A; Seshagiri S; Girimaji SC; Gowda H
OMICS; 2017 May; 21(5):295-303. PubMed ID: 28481730
[TBL] [Abstract][Full Text] [Related]
19. Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability.
Asif M; Anayat M; Tariq F; Noureen T; Din GNU; Becker C; Becker K; Thiele H; Makhdoom EUH; Shaiq PA; Baig SM; Nürnberg P; Hussain MS; Raja GK; Abdullah U
Genes (Basel); 2022 Dec; 14(1):. PubMed ID: 36672789
[TBL] [Abstract][Full Text] [Related]
20. Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree.
Makrythanasis P; Guipponi M; Santoni FA; Zaki M; Issa MY; Ansar M; Hamamy H; Antonarakis SE
Hum Genomics; 2016 Jul; 10(1):26. PubMed ID: 27421267
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
